Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100105

Lindsay E. Rosenfeld , Kimberly LeBlanc , Anna Nagy , Jorick Bater , Undiagnosed Diseases Network, Alexa T. McCray

{"title":"Insights from multidisciplinary rare disease visits: Findings from wrap-up documents and participant surveys in a national diagnostic study","authors":"Lindsay E. Rosenfeld , Kimberly LeBlanc , Anna Nagy , Jorick Bater , Undiagnosed Diseases Network, Alexa T. McCray","doi":"10.1016/j.rare.2025.100105","DOIUrl":"10.1016/j.rare.2025.100105","url":null,"abstract":"<div><h3>Background</h3><div>This study is part of the Undiagnosed Diseases Network (UDN). The UDN is designed to improve diagnostic evaluation for patients who have defied diagnosis as well as to identify the underlying mechanism of disease. We explored recommendations made as part of the UDN evaluation, the number and type of specialists involved in that evaluation, and factors related to changes in care following the UDN visit. We used two datasets: visit wrap-up documents and post-evaluation surveys. We created distinct statistical models for each dataset to further understand the patient experience after a multidisciplinary rare disease visit.</div></div><div><h3>Results</h3><div>Across datasets, the most common primary symptom category was neurology. The mean number of evaluations per participant was 3.8 with the most common being Genetics. The mean number of recommendations per participant was 4.9; 81.5 % had ≥ 1 recommendation. The most common recommendation was referral to a medical provider. Having a diagnosis within 3 months of the UDN visit was associated with more evaluations, but fewer recommendations.</div></div><div><h3>Conclusion</h3><div>UDN visits typically involve evaluations by multiple specialists, potentially resulting in recommendations for downstream care. In the survey sample, over half the participants cited their intention to follow the recommendations made. Maximizing communication about ongoing care management following the UDN visit may also optimize care. Future research can explore how and why such characteristics matter.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100105"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145048296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel mutations in a patient with KBG syndrome and sulfonylurea unresponsive ABCC8- Maturity onset of the Diabetes in Young KBG综合征和磺脲无反应的ABCC8患者的新突变-青少年糖尿病的成熟发病

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100108

Debaditya Das , Arijit Singha , Anish Kar , Subhasis Neogi , Piyas Gargari , Nitai P. Bhattacharyya , Indira Maisnam , Pranab Kumar Sahana

{"title":"Novel mutations in a patient with KBG syndrome and sulfonylurea unresponsive ABCC8- Maturity onset of the Diabetes in Young","authors":"Debaditya Das , Arijit Singha , Anish Kar , Subhasis Neogi , Piyas Gargari , Nitai P. Bhattacharyya , Indira Maisnam , Pranab Kumar Sahana","doi":"10.1016/j.rare.2025.100108","DOIUrl":"10.1016/j.rare.2025.100108","url":null,"abstract":"<div><div>The proband was a 17-year-old girl born out of non-consanguineous marriage and delivered by vaginal delivery at 32 weeks of gestation. Gross motor skills were slightly delayed. At the age of 13 years, she was diagnosed with diabetes mellitus. There was no history suggestive of autism or attention deficit hyperactive disorders and intellectual disability. On examination, her height (HT) was 133.2 cm (< 3rd centile). The following facial features were observed: triangular facies, macrodontia, thin upper lip, synophrys, low anterior hair line, high nasal bridge, anteverted ears and long eye lashes. Hypertrichosis was present over the back, forearm and lower limbs. Importantly multiple callosities were observed over the plantar surface of each foot. Branchial sinus over the anterior margin of lower end of sternocleidomastoid muscle was detected in either side. Exome sequencing revealed that the proband had a novel heterozygous variant (Asp1187Glu) at ABCC8 and a heterozygous variant (Lys2447del) at ANKRD11. The mutations were confirmed on sanger sequencing. Her mother, who had history of gestational diabetes mellitus, had also this ABCC8 variant. Father and younger brother did not have any one of these variants. The glycaemic status of the proband did not improve with high dose of glimepiride possibly due to altered function of sulfonylurea receptor 1. Here we report a patient with KBG syndrome and sulfonylurea unresponsive ABCC8-MODY associated with second or rarely third branchial cleft anomaly and plantar callosity, which to the best of our knowledge has not been reported earlier.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100108"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145048282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Methodological considerations and implications for appetite and feeding behaviour research in PKU; Current knowledge, practical application and future perspectives 北大鼠食欲与摄食行为研究的方法学思考与启示当前知识、实际应用和未来展望

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100060

Ben Green

{"title":"Methodological considerations and implications for appetite and feeding behaviour research in PKU; Current knowledge, practical application and future perspectives","authors":"Ben Green","doi":"10.1016/j.rare.2025.100060","DOIUrl":"10.1016/j.rare.2025.100060","url":null,"abstract":"<div><div>Appetite and the regulation of feeding behaviour are sophisticated processes. Regulated through homeostatic and non-homeostatic influences, appetite-related peptides and external cues existing in the physical environment work synergistically to maintain energy homeostasis. Phenylketonuria (PKU) is a rare disorder impacting phenylalanine metabolism. The disrupted breakdown of phenylalanine into tyrosine and its metabolites may impact the mechanisms controlling appetite and feeding behaviour compared to non-PKU counterparts. This may, in part, relate to consumption of L-amino acid protein substitutes and specialist low-protein foods which are integral adjuncts to the dietary management of PKU. While adequate energy intake is an important factor for maintaining satisfactory blood phenylalanine concentrations, appetite and feeding behaviour should, therefore, represent an integral consideration for PKU but is currently understudied. Only a handful of studies have evaluated appetite and feeding behaviour in PKU. The most appropriate methodological approaches of these studies however were not employed. This manuscript, therefore, reviews the purported mechanisms controlling appetite and feeding behaviour and from a PKU perspective provides readers with sound study design proposals and justification. Though one method will not answer all research questions, this manuscript may help researchers and practitioners make informed decisions about what tools and methodological approaches will provide the most meaningful outcomes. The manuscript concludes with suggestions for future research directions. Though the evidence concerning appetite and feeding behaviour in PKU remains equivocal at present, early data appears to indicate that protein substitutes with glycomacropeptide facilitate metabolic control and improve appetite-relate peptide regulation and therefore satiety signalling in PKU.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100060"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Case reports of the 13th Undiagnosed Diseases Network International Conference 5-7 September 2024 – Seoul, Korea 2024年9月5日至7日在韩国首尔举行的第13届未确诊疾病网络国际会议病例报告

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100084

引用次数: 0

Reflections on the ERN ITHACA 2024 Patient Workshop in Bucharest 对布加勒斯特ERN ITHACA 2024年患者研讨会的反思

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100072

Tanja Zdolšek Draksler , Anne Hugon , Dorica Dan

引用次数: 0

Improving care for rare and undiagnosed diseases – The role of care pathways 改善对罕见和未确诊疾病的护理——护理途径的作用

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100076

Sara Brambilla, Gareth Baynam, Roberto Giugliani, Holm Graessner, Carmencita D. Padilla, Chiuhui Mary Wang

引用次数: 0

Impact on the family of a child’s rare disease: A large cross-sectional study 儿童罕见病对家庭的影响：大型横断面研究

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100066

Judith M. Jobling , Suzy M. Teutsch , Guy D. Eslick , Elizabeth J. Elliott

{"title":"Impact on the family of a child’s rare disease: A large cross-sectional study","authors":"Judith M. Jobling , Suzy M. Teutsch , Guy D. Eslick , Elizabeth J. Elliott","doi":"10.1016/j.rare.2025.100066","DOIUrl":"10.1016/j.rare.2025.100066","url":null,"abstract":"<div><h3>Introduction</h3><div>Children living with rare diseases (RD) require considerable support from their families. <em>Aim:</em> To assess the impact of children’s RD on family functioning and evaluate predictors of the level of impact.</div></div><div><h3>Methods</h3><div>Families of Australian children aged < 19 years and living with a RD were invited to complete a comprehensive survey. Impact on family (IOF) score, using the validated IOF scale, embedded within the survey, was used as the main outcome measure.</div></div><div><h3>Results</h3><div>Families of 462 children with > 240 different RD completed the survey. IOF scores increased as child health functioning (HF) worsened (Odds ratio [OR]= 97.3 [95 % CI 40.6–233.4] for severely reduced compared to excellent HF). Speaking a first language other than English (OR 2.9; 95 % CI 1.4–6.3), experiencing financial difficulty (OR 2.9; 95 % CI 1.4–3.1), long wait times to see a specialist doctor (OR 1.9; 95 % CI 1.3–2.9), and having two versus one child with a RD (OR 3.8; 95 % CI 1.1–14.5) were also associated with higher IOF scores. Conversely, IOF scores significantly decreased as the age of children increased (6–11 y: OR 0.6 (95 % CI 0.4–0.9); 12–18 y: OR 0.5 (95 % CI 0.3–0.8), versus 0–5 y).</div></div><div><h3>Conclusion</h3><div>Worse health-related functioning in children with RD results in significantly higher impacts on family functioning. Practical, financial, and socio-emotional support is required to reduce the burden for families whose children live with a RD, particularly families from non-English speaking backgrounds, with financial stress, or with young children who have severe disease.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100066"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143429201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry 基于全国登记的荷兰八种神经肌肉疾病的地理分布

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100059

Johanna C.W. Deenen , André L.M. Verbeek , Pieter A. van Doorn , Catharina G. Faber , Anneke J. van der Kooi , Nicolette C. Notermans , Jan J.G.M. Verschuuren , Baziel G.M. van Engelen , Nicol C. Voermans

{"title":"Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry","authors":"Johanna C.W. Deenen , André L.M. Verbeek , Pieter A. van Doorn , Catharina G. Faber , Anneke J. van der Kooi , Nicolette C. Notermans , Jan J.G.M. Verschuuren , Baziel G.M. van Engelen , Nicol C. Voermans","doi":"10.1016/j.rare.2025.100059","DOIUrl":"10.1016/j.rare.2025.100059","url":null,"abstract":"<div><div>Neuromuscular disorders are a very heterogeneous group of diseases and comprise a large number of patients. Epidemiological key figures on incidence, prevalence and mortality serve as basic information for individualised and public health care and researchers. Geographical mapping of the specific disorders is expected to provide valuable insights into clustering of the conditions, which points to possible environmental and genetical determinants. So far, mostly geographical maps of motor neuron diseases have been reported. By using record information from the Dutch nationwide Computer Registry of All Myopathies and Polyneuropathies (CRAMP) we aimed to generate geographical maps for eight disorders predominantly diagnosed in adults. We investigated the geographical distribution of newly diagnosed patients in the Netherlands from 2004 to 2011. The variables used were diagnosis, date of diagnosis, and the first two digits of the postal code for geographical location from CRAMP. The number of incident cases was divided by the total number of people populating the postal code area. Nationwide incidence maps were constructed for myotonic dystrophy, progressive (spinal) muscular atrophy, chronic inflammatory demyelinating polyneuropathy, facioscapulohumeral muscular dystrophy, inclusion body myositis, hereditary motor and sensory neuropathy, Pompe disease and oculopharyngeal muscular dystrophy. Considerable regional variation between disorders was observed, particularly for myotonic dystrophy and facioscapulohumeral muscular dystrophy. We provided the first neuromuscular atlas of the Netherlands with maps for eight disorders commonly seen in the neuromuscular practice. To address possible outliers due to low population numbers, Bayesian smoothing techniques should be considered in future research.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100059"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Familial currarino syndrome caused by a deep intronic variant resulting in missplicing of MNX1 家族性currarino综合征由一种深层内含子变异引起的MNX1剪接错误

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100104

Em C. Jameson , Zandra A. Jenkins , Candice Feben , Kate Gibson , David Markie , Stephen P. Robertson , Benjamin J. Halliday

引用次数: 0

Posters of the 13th Undiagnosed Diseases Network International Conference 5-7 September 2024 – Seoul, Korea 第13届未确诊疾病网络国际会议海报，2024年9月5-7日，韩国首尔

Rare Pub Date : 2025-01-01 DOI: 10.1016/j.rare.2025.100083

引用次数: 0

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